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muscular dystrophy, limb-girdle, autosomal recessive 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular dystrophy, limb-girdle, autosomal recessive 28

MONDO:0957270

Overview

GeneticsAutosomal recessive · HMGCR (chr 5)

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating alkaline phosphatase concentration, Increased circulating troponin T concentration, and Reduced muscle fiber alpha dystroglycan and others; and very common findings: Proximal lower limb muscle weakness. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	14

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HMGCR encodes 3-hydroxy-3-methylglutaryl-CoA reductase (888 aa). Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis. Highest expression in Skin Not Sun Exposed Suprapubic (80.4 TPM) and Skin Sun Exposed Lower leg (73.8 TPM).

Muscular dystrophy, limb-girdle, autosomal recessive 28 is associated with mutations in the HMGCR gene on chromosome 5.

The HMGCR protein participates in HMGCR gene expression pathway.

HMGCR is classified as a druggable target (Druggable Genome and Enzyme categories) with score 2.9.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for HMGCR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy, limb-girdle, autosomal recessive 28 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 19 always present features, 1 very common feature, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for muscular dystrophy, limb-girdle, autosomal recessive 28.

7 publications have been identified in PubMed for muscular dystrophy, limb-girdle, autosomal recessive 28. Research spans Case Report / Case Series (71%), Diagnostic / Biomarker (14%), and Epidemiology / Natural History (14%).

Recent Publications

Kang S (2026). [PMID: 41529218](https://pubmed.ncbi.nlm.nih.gov/41529218/). *Neurol Neuroimmunol Neuroinflamm*. [Case Report / Case Series]
Mouloudi N (2026). [PMID: 41954144](https://pubmed.ncbi.nlm.nih.gov/41954144/). *Acta Myol*. [Case Report / Case Series]
Paprad T (2025). [PMID: 40195250](https://pubmed.ncbi.nlm.nih.gov/40195250/). *Neurol Sci*. [Case Report / Case Series]
Molaei N (2025). [PMID: 41315541](https://pubmed.ncbi.nlm.nih.gov/41315541/). *Sci Rep*. [Epidemiology / Natural History]
Saluja A (2024). [PMID: 38975466](https://pubmed.ncbi.nlm.nih.gov/38975466/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620375

Orphanet

European rare disease database

Orphanet:653725

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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muscular dystrophy, limb-girdle, autosomal recessive 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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